Canonical Allele Identifier: CA885737527

Gene: AP4B1 AP4B1-AS1

Linked Data

• dbSNP Id: rs1365071114
• gnomAD v3: 1-113898657-CA-C
• gnomAD v4: 1-113898657-CA-C
• MyVariant Identifiers: chr1:g.114441280del (hg19) ; chr1:g.113898658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113898659del , CM000663.2:g.113898659del	GRCh38
NC_000001.10:g.114441281del , CM000663.1:g.114441281del	GRCh37
NC_000001.9:g.114242804del	NCBI36
NG_031901.1:g.11462del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369564.6:c.973+60del (AP4B1)	ENSP00000358577.2:n.973+60del
ENST00000369567.6:c.694+60del (AP4B1)	ENSP00000358580.1:n.694+60del
ENST00000369571.3:c.1198+60del (AP4B1)	ENSP00000358584.3:n.1198+60del
ENST00000432415.6:c.694+60del (AP4B1)	ENSP00000393622.2:n.694+60del
ENST00000460653.2:c.*268+60del (AP4B1)	ENSP00000518881.1:n.*268+60del
ENST00000484201.6:c.569+60del (AP4B1)	ENSP00000518883.1:n.569+60del
ENST00000489499.6:c.*540+60del (AP4B1)	ENSP00000518882.1:n.*540+60del
ENST00000713588.1:c.*309+60del (AP4B1)	ENSP00000518880.1:n.*309+60del
ENST00000713590.1:c.1198+60del (AP4B1)	ENSP00000518886.1:n.1198+60del
ENST00000369569.6:c.1198+60del (AP4B1) MANE Select	ENSP00000358582.1:n.1198+60del
ENST00000256658.8:c.1198+60del (AP4B1)	ENSP00000256658.4:n.1198+60del
ENST00000369567.5:c.694+60del (AP4B1)	ENSP00000358580.1:n.694+60del
ENST00000369569.5:c.1198+60del (AP4B1)	ENSP00000358582.1:n.1198+60del
ENST00000479285.5:n.426+60del (AP4B1)
ENST00000484201.5:n.760+60del (AP4B1)
NM_001253852.1:c.1198+60del (AP4B1)	NP_001240781.1:n.1198+60del
NM_001253852.2:c.1198+60del (AP4B1)	NP_001240781.1:n.1198+60del
NM_001253853.1:c.901+60del (AP4B1)	NP_001240782.1:n.901+60del
NM_001253853.2:c.901+60del (AP4B1)	NP_001240782.1:n.901+60del
NM_001308312.1:c.694+60del (AP4B1)	NP_001295241.1:n.694+60del
NM_006594.3:c.1198+60del (AP4B1)	NP_006585.2:n.1198+60del
NM_006594.4:c.1198+60del (AP4B1)	NP_006585.2:n.1198+60del
NR_037864.1:n.368+670del (AP4B1-AS1)
NR_125965.1:n.536+670del (AP4B1-AS1)
XM_005270381.2:c.1198+60del (AP4B1)	XP_005270438.1:n.1198+60del
XM_005270382.3:c.1198+60del (AP4B1)	XP_005270439.1:n.1198+60del
XM_011540523.1:c.973+60del (AP4B1)	XP_011538825.1:n.973+60del
XM_011540524.1:c.973+60del (AP4B1)	XP_011538826.1:n.973+60del
XM_011540525.1:c.919+60del (AP4B1)	XP_011538827.1:n.919+60del
XM_011540527.1:c.580+60del (AP4B1)	XP_011538829.1:n.580+60del
XM_011540528.1:c.223+60del (AP4B1)	XP_011538830.1:n.223+60del
XR_246227.1:n.1380+60del (AP4B1)
XM_011540523.3:c.973+60del (AP4B1)	XP_011538825.1:n.973+60del
XM_011540525.3:c.919+60del (AP4B1)	XP_011538827.1:n.919+60del
XM_017000089.2:c.1198+60del (AP4B1)	XP_016855578.1:n.1198+60del
XM_017000090.1:c.694+60del (AP4B1)	XP_016855579.1:n.694+60del
XM_017000091.2:c.919+60del (AP4B1)	XP_016855580.1:n.919+60del
XM_017000092.2:c.223+60del (AP4B1)	XP_016855581.1:n.223+60del
XM_017000093.2:c.1198+60del (AP4B1)	XP_016855582.1:n.1198+60del
XM_024452422.1:c.919+60del (AP4B1)	XP_024308190.1:n.919+60del
XM_024452423.1:c.1198+60del (AP4B1)	XP_024308191.1:n.1198+60del
XM_024452435.1:c.973+60del (AP4B1)	XP_024308203.1:n.973+60del
XM_024452441.1:c.694+60del (AP4B1)	XP_024308209.1:n.694+60del
XR_001736928.2:n.1628+60del (AP4B1)
XR_001736930.2:n.1669+60del (AP4B1)
XR_002958805.1:n.1400+60del (AP4B1)
XR_002958806.1:n.1669+60del (AP4B1)
XR_002958807.1:n.1508+60del (AP4B1)
NM_001253852.3:c.1198+60del (AP4B1) MANE Select	NP_001240781.1:n.1198+60del
NM_001253853.3:c.901+60del (AP4B1)	NP_001240782.1:n.901+60del
NM_001308312.2:c.694+60del (AP4B1)	NP_001295241.1:n.694+60del
NM_006594.5:c.1198+60del (AP4B1)	NP_006585.2:n.1198+60del